Incidental Mutation 'R7560:Plcb2'
ID 584997
Institutional Source Beutler Lab
Gene Symbol Plcb2
Ensembl Gene ENSMUSG00000040061
Gene Name phospholipase C, beta 2
Synonyms B230205M18Rik
MMRRC Submission 045626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7560 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118537998-118558919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118546124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 557 (L557P)
Ref Sequence ENSEMBL: ENSMUSP00000124364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102524] [ENSMUST00000159756]
AlphaFold A3KGF7
Predicted Effect probably damaging
Transcript: ENSMUST00000102524
AA Change: L580P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099583
Gene: ENSMUSG00000040061
AA Change: L580P

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:EF-hand_like 220 311 2.5e-24 PFAM
PLCXc 312 463 2.87e-79 SMART
low complexity region 504 518 N/A INTRINSIC
PLCYc 547 663 2.39e-67 SMART
C2 684 783 9.17e-15 SMART
low complexity region 902 925 N/A INTRINSIC
low complexity region 929 940 N/A INTRINSIC
Pfam:PLC-beta_C 974 1149 4.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159756
AA Change: L557P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124364
Gene: ENSMUSG00000040061
AA Change: L557P

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:EF-hand_like 197 288 7.1e-26 PFAM
PLCXc 289 440 2.87e-79 SMART
low complexity region 481 495 N/A INTRINSIC
PLCYc 524 640 2.39e-67 SMART
C2 661 760 9.17e-15 SMART
low complexity region 879 902 N/A INTRINSIC
low complexity region 906 917 N/A INTRINSIC
Pfam:PLC-beta_C 946 1129 5.1e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (100/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,932,510 (GRCm39) D502G probably benign Het
Adrb1 T C 19: 56,711,120 (GRCm39) V106A probably damaging Het
Ahcyl2 G T 6: 29,886,139 (GRCm39) G352W probably damaging Het
Ahnak2 T G 12: 112,745,851 (GRCm39) D446A Het
Arhgap42 T C 9: 9,035,532 (GRCm39) D270G probably benign Het
Atp2a1 A G 7: 126,058,828 (GRCm39) V129A possibly damaging Het
B9d2 G A 7: 25,380,784 (GRCm39) probably benign Het
Bace1 A T 9: 45,767,437 (GRCm39) I207F possibly damaging Het
Blnk T A 19: 40,940,834 (GRCm39) I190F possibly damaging Het
Bmp7 C T 2: 172,781,757 (GRCm39) E36K possibly damaging Het
Brsk2 A G 7: 141,554,597 (GRCm39) E654G probably benign Het
Cacna2d3 T C 14: 28,780,378 (GRCm39) H661R probably benign Het
Cdh4 T C 2: 179,532,695 (GRCm39) V719A probably benign Het
Cdkn2d G T 9: 21,200,540 (GRCm39) P77H probably damaging Het
Chd3 A G 11: 69,247,096 (GRCm39) V1024A probably damaging Het
Chsy1 T A 7: 65,820,992 (GRCm39) M409K possibly damaging Het
Chsy1 T C 7: 65,821,319 (GRCm39) L518P probably damaging Het
Cic G A 7: 24,972,278 (GRCm39) V670M probably damaging Het
Clock A T 5: 76,390,738 (GRCm39) probably null Het
Coro1a C A 7: 126,302,306 (GRCm39) V14L probably damaging Het
Ctcfl C A 2: 172,960,199 (GRCm39) C128F probably damaging Het
Cyb5b A G 8: 107,896,491 (GRCm39) T71A probably damaging Het
Cyp2c40 C G 19: 39,795,658 (GRCm39) V174L possibly damaging Het
D630045J12Rik T A 6: 38,173,562 (GRCm39) Q202L possibly damaging Het
Dgkz T C 2: 91,773,160 (GRCm39) probably benign Het
Dlgap2 T C 8: 14,872,697 (GRCm39) probably null Het
Dnah1 T C 14: 31,026,940 (GRCm39) I695V probably benign Het
Dst T A 1: 34,221,532 (GRCm39) S2445R possibly damaging Het
Elob T C 17: 24,043,950 (GRCm39) D83G probably benign Het
Elp4 T A 2: 105,624,933 (GRCm39) D320V probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Exph5 A G 9: 53,287,073 (GRCm39) I1385V probably benign Het
Fat3 A T 9: 15,908,138 (GRCm39) D2621E probably damaging Het
Fbxl6 G T 15: 76,422,669 (GRCm39) A83D probably benign Het
Fmo2 A G 1: 162,716,318 (GRCm39) Y90H probably damaging Het
Fzd4 T A 7: 89,056,761 (GRCm39) Y269* probably null Het
Grik5 T A 7: 24,757,951 (GRCm39) I377F probably damaging Het
Havcr2 C A 11: 46,349,889 (GRCm39) P137Q probably damaging Het
Hectd4 A G 5: 121,392,405 (GRCm39) N223S possibly damaging Het
Hmcn2 A G 2: 31,347,185 (GRCm39) S4792G probably benign Het
Hps3 T G 3: 20,084,616 (GRCm39) I191L probably benign Het
Ica1l T A 1: 60,049,369 (GRCm39) K195* probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ift140 A G 17: 25,311,315 (GRCm39) D1170G probably benign Het
Igflr1 T C 7: 30,266,776 (GRCm39) F208S possibly damaging Het
Kcnma1 T C 14: 23,580,310 (GRCm39) T313A probably benign Het
Krt6a T A 15: 101,598,994 (GRCm39) I524F unknown Het
Lce1d G T 3: 92,593,148 (GRCm39) H88Q unknown Het
Lrmda A G 14: 22,878,770 (GRCm39) E177G probably benign Het
Lrrn3 T A 12: 41,502,712 (GRCm39) N535I possibly damaging Het
Map2k4 T A 11: 65,666,583 (GRCm39) I40L unknown Het
Map7d1 A G 4: 126,130,429 (GRCm39) L459P probably damaging Het
Mipol1 A T 12: 57,352,859 (GRCm39) N66I possibly damaging Het
Mycn A C 12: 12,990,292 (GRCm39) F35V probably benign Het
Mzt2 A C 16: 15,680,669 (GRCm39) M40R possibly damaging Het
N4bp2 T G 5: 65,948,458 (GRCm39) L363V probably damaging Het
Nfat5 T A 8: 108,097,221 (GRCm39) M1532K probably benign Het
Notch1 G A 2: 26,350,177 (GRCm39) T2321M probably benign Het
Nr1h4 T C 10: 89,334,123 (GRCm39) D89G probably benign Het
Nsun4 G A 4: 115,908,691 (GRCm39) T623I possibly damaging Het
Nup155 T C 15: 8,184,531 (GRCm39) S1309P probably benign Het
Or4e1 T C 14: 52,700,851 (GRCm39) N205S probably damaging Het
Or51f5 T C 7: 102,430,889 (GRCm39) S69P probably damaging Het
Or8h10 T C 2: 86,809,122 (GRCm39) Y6C probably benign Het
Pcsk5 A G 19: 17,814,336 (GRCm39) F61L probably benign Het
Phrf1 A T 7: 140,811,138 (GRCm39) probably null Het
Pkd1 G A 17: 24,792,605 (GRCm39) E1431K probably benign Het
Pkd2 T A 5: 104,628,219 (GRCm39) I431N probably damaging Het
Poteg A G 8: 27,984,988 (GRCm39) N449S probably benign Het
Ppargc1b C A 18: 61,445,281 (GRCm39) G192W probably damaging Het
Rab13 T C 3: 90,132,206 (GRCm39) S178P probably benign Het
Ralgds A G 2: 28,437,607 (GRCm39) D571G probably damaging Het
Ror2 A G 13: 53,264,849 (GRCm39) S748P probably benign Het
Sart1 A T 19: 5,434,905 (GRCm39) L167Q probably damaging Het
Septin12 A G 16: 4,810,055 (GRCm39) V160A possibly damaging Het
Sgo1 T C 17: 53,986,295 (GRCm39) S299G probably benign Het
Shoc1 T C 4: 59,076,140 (GRCm39) N601S possibly damaging Het
Slc35b4 T A 6: 34,140,296 (GRCm39) D152V probably benign Het
Spata31h1 T C 10: 82,120,449 (GRCm39) Y4187C probably damaging Het
Specc1 T A 11: 62,019,235 (GRCm39) probably null Het
Synj1 G A 16: 90,737,371 (GRCm39) T1308I probably benign Het
Thap12 T G 7: 98,359,438 (GRCm39) L106V probably damaging Het
Togaram1 T C 12: 65,057,916 (GRCm39) M1501T possibly damaging Het
Top2a G T 11: 98,891,663 (GRCm39) N1153K probably benign Het
Trpm5 A G 7: 142,634,723 (GRCm39) L658P probably damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Vcf1 C T 11: 113,554,215 (GRCm39) G160D probably damaging Het
Vmn1r80 A T 7: 11,927,750 (GRCm39) I287F probably damaging Het
Vmn1r87 T C 7: 12,865,745 (GRCm39) S181G probably damaging Het
Vmn2r71 A T 7: 85,273,115 (GRCm39) H643L probably benign Het
Washc5 G A 15: 59,238,041 (GRCm39) R228C probably damaging Het
Wdr72 T C 9: 74,117,408 (GRCm39) S719P probably damaging Het
Xrcc3 G T 12: 111,774,336 (GRCm39) D164E probably benign Het
Zc2hc1b G A 10: 13,044,529 (GRCm39) R45C probably damaging Het
Zfp335 A G 2: 164,737,912 (GRCm39) Y900H probably damaging Het
Zfp512b G A 2: 181,228,875 (GRCm39) R697C probably damaging Het
Zfp60 T C 7: 27,448,561 (GRCm39) Y410H probably damaging Het
Zfp60 T A 7: 27,448,696 (GRCm39) C455S probably damaging Het
Zfp605 C T 5: 110,275,157 (GRCm39) Q92* probably null Het
Zfp64 C T 2: 168,767,585 (GRCm39) D676N probably damaging Het
Other mutations in Plcb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Plcb2 APN 2 118,549,370 (GRCm39) missense probably damaging 1.00
IGL00715:Plcb2 APN 2 118,544,215 (GRCm39) critical splice donor site probably null
IGL00851:Plcb2 APN 2 118,558,732 (GRCm39) missense probably benign 0.30
IGL01765:Plcb2 APN 2 118,540,749 (GRCm39) splice site probably benign
IGL01837:Plcb2 APN 2 118,542,407 (GRCm39) splice site probably null
IGL01868:Plcb2 APN 2 118,541,868 (GRCm39) missense probably benign 0.09
IGL01868:Plcb2 APN 2 118,540,071 (GRCm39) missense probably damaging 1.00
IGL02158:Plcb2 APN 2 118,541,844 (GRCm39) missense probably benign 0.06
IGL02447:Plcb2 APN 2 118,543,636 (GRCm39) missense probably damaging 1.00
IGL02490:Plcb2 APN 2 118,550,241 (GRCm39) missense probably damaging 0.99
IGL02691:Plcb2 APN 2 118,541,444 (GRCm39) missense probably benign 0.00
IGL02723:Plcb2 APN 2 118,547,500 (GRCm39) splice site probably benign
IGL02929:Plcb2 APN 2 118,543,715 (GRCm39) splice site probably benign
IGL02949:Plcb2 APN 2 118,549,590 (GRCm39) splice site probably null
PIT4480001:Plcb2 UTSW 2 118,553,977 (GRCm39) missense probably benign 0.00
R0031:Plcb2 UTSW 2 118,545,942 (GRCm39) missense probably benign 0.36
R0157:Plcb2 UTSW 2 118,549,022 (GRCm39) missense probably damaging 0.98
R0366:Plcb2 UTSW 2 118,554,928 (GRCm39) missense probably benign 0.01
R0376:Plcb2 UTSW 2 118,547,721 (GRCm39) missense probably damaging 0.99
R0570:Plcb2 UTSW 2 118,547,806 (GRCm39) missense probably benign 0.32
R0790:Plcb2 UTSW 2 118,542,964 (GRCm39) splice site probably benign
R0893:Plcb2 UTSW 2 118,555,586 (GRCm39) splice site probably benign
R1647:Plcb2 UTSW 2 118,554,261 (GRCm39) missense possibly damaging 0.51
R1648:Plcb2 UTSW 2 118,554,261 (GRCm39) missense possibly damaging 0.51
R1686:Plcb2 UTSW 2 118,546,168 (GRCm39) splice site probably benign
R2210:Plcb2 UTSW 2 118,547,984 (GRCm39) missense probably damaging 1.00
R2211:Plcb2 UTSW 2 118,554,015 (GRCm39) missense probably benign 0.05
R2251:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2252:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2253:Plcb2 UTSW 2 118,554,246 (GRCm39) missense probably benign 0.10
R2426:Plcb2 UTSW 2 118,546,130 (GRCm39) missense probably damaging 1.00
R3970:Plcb2 UTSW 2 118,546,171 (GRCm39) splice site probably benign
R4007:Plcb2 UTSW 2 118,541,274 (GRCm39) missense probably damaging 1.00
R4162:Plcb2 UTSW 2 118,540,068 (GRCm39) missense probably damaging 1.00
R4236:Plcb2 UTSW 2 118,540,047 (GRCm39) missense probably damaging 1.00
R4422:Plcb2 UTSW 2 118,542,484 (GRCm39) missense probably benign 0.28
R4772:Plcb2 UTSW 2 118,543,615 (GRCm39) missense probably benign 0.20
R4795:Plcb2 UTSW 2 118,541,605 (GRCm39) missense probably benign 0.32
R4935:Plcb2 UTSW 2 118,549,396 (GRCm39) missense probably damaging 1.00
R5019:Plcb2 UTSW 2 118,542,617 (GRCm39) missense probably benign 0.01
R5055:Plcb2 UTSW 2 118,548,703 (GRCm39) missense probably benign 0.06
R5452:Plcb2 UTSW 2 118,548,727 (GRCm39) missense probably damaging 0.98
R5622:Plcb2 UTSW 2 118,545,210 (GRCm39) missense probably damaging 1.00
R5752:Plcb2 UTSW 2 118,541,532 (GRCm39) intron probably benign
R6284:Plcb2 UTSW 2 118,547,782 (GRCm39) missense probably benign 0.37
R6380:Plcb2 UTSW 2 118,545,949 (GRCm39) missense probably damaging 1.00
R6574:Plcb2 UTSW 2 118,549,654 (GRCm39) missense probably damaging 0.99
R6728:Plcb2 UTSW 2 118,554,171 (GRCm39) missense probably damaging 1.00
R6792:Plcb2 UTSW 2 118,549,922 (GRCm39) missense probably damaging 1.00
R7529:Plcb2 UTSW 2 118,540,715 (GRCm39) missense probably damaging 1.00
R7610:Plcb2 UTSW 2 118,550,240 (GRCm39) missense possibly damaging 0.86
R7760:Plcb2 UTSW 2 118,541,869 (GRCm39) missense probably benign
R8152:Plcb2 UTSW 2 118,541,302 (GRCm39) missense probably benign 0.22
R8170:Plcb2 UTSW 2 118,541,934 (GRCm39) missense possibly damaging 0.68
R8413:Plcb2 UTSW 2 118,549,304 (GRCm39) missense probably damaging 1.00
R8913:Plcb2 UTSW 2 118,544,365 (GRCm39) missense probably damaging 1.00
R9072:Plcb2 UTSW 2 118,547,878 (GRCm39) missense possibly damaging 0.67
R9758:Plcb2 UTSW 2 118,545,921 (GRCm39) missense probably damaging 0.97
R9773:Plcb2 UTSW 2 118,541,274 (GRCm39) missense probably damaging 1.00
X0024:Plcb2 UTSW 2 118,542,856 (GRCm39) missense probably benign 0.13
Z1176:Plcb2 UTSW 2 118,553,609 (GRCm39) missense probably damaging 0.99
Z1177:Plcb2 UTSW 2 118,539,681 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCATGTAGTTGGAAGAGTCC -3'
(R):5'- AAATCTGGCTGCTACTAGGCC -3'

Sequencing Primer
(F):5'- AAGAGTCCATGCGTGTGC -3'
(R):5'- TGCTACTAGGCCCTCAGAC -3'
Posted On 2019-10-17